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genetic polymorphism

در نشریات گروه پزشکی
  • Rawan Azad Mohammed*, Ahmed Salih Sahib, Qahtan Mohammed Ali
    Introduction

    Steroids are the primary treatment for idiopathic nephrotic syndrome. Pharmacogenomic factors, including genetic and histological modifications, play a significant role in influencing the response to steroids. One such factor is the excessive synthesis of P-glycoprotein (permeability glycoprotein) and multidrug resistance-associated protein 1 (MDR-1), which may contribute to the development of steroid resistance and alterations in steroid pharmacokinetics.

    Objectives

    We examined the correlation between steroid responsiveness and the MDR-1 gene variations, specifically rs1045642 (3435T/C) and rs2032582 (2677G/T/A), in children in Iraq diagnosed with idiopathic nephrotic syndrome (INS).

    Patients and Methods

    In this cross-sectional study, one hundred Iraqi pediatric patients aged one to 16 years, all diagnosed with primary nephrotic syndrome and treated with prednisolone, were enrolled. After isolating genomic DNA, genotyping was performed using the allele-specific polymerase chain reaction (PCR) technique. A notable correlation was identified between the adenosine triphosphate-binding cassette B1 (ABCB1) gene SNPs 3435T>C and 2677G>T/A, and the likelihood of prednisolone resistance in these patients with nephrotic syndrome.

    Results

    The study included 45 cases of steroid-sensitive nephrotic syndrome (SSNS), 38 cases of steroid-dependent nephrotic syndrome (SDNS), and 17 cases of steroid-resistant nephrotic syndrome (SRNS). Our investigation revealed a significant correlation between the 3435T>C polymorphism of the ABCB1 gene and the likelihood of resistance to prednisolone in pediatric patients with nephrotic syndrome (p = 0.02). The genotype distribution for rs1045642 (3435T>C SNP) was 14 TT, 68 TC, and 18 CC. For rs2032582 (2677G/T/A SNP), the genotype distribution was 18 GG, 16 GT, 24 TT, 23 TA, and 19 AA. Additionally, the 2677G>T/A polymorphism was significantly associated with the onset of prednisolone-resistant nephrotic syndrome (P = 0.043).

    Conclusion

    This study concluded that children with the MDR-1 3435T/C and 2677G/T/A polymorphisms may be more vulnerable to SRNS and, therefore, may require alternative therapeutic approaches.

    Keywords: Nephrotic Syndrome, Prednisolone, Genetic Polymorphism
  • Masoud Yousefzadeh, Javad Amini Mahabadi, Mohammad Karimian *, Hossein Nikzad
    Objectives
    This study aims to investigate how genetic variations in genes essential for spermatogenesis may influence the risk of male infertility. Specifically, it focuses on the HTR2A and SLC18A genes, which are involved in selective serotonin reuptake and may affect sperm differentiation, maturation, and motility. The primary objective was to evaluate the association between the rs6313 and rs2270641 polymorphisms in these genes and infertility among men attending the infertility center at Beheshti Hospital in Kashan.
    Methods
    A case-control study design was utilized, involving 110 men diagnosed with infertility and 120 healthy controls. Semen samples were collected from all participants, followed by genomic DNA extraction. Polymerase chain reaction (PCR) was employed to amplify the DNA, and genotyping for the rs6313 and rs2270641 polymorphisms was performed using PCR-restriction fragment length polymorphism (RFLP) analysis. Statistical comparisons of genotype and allele frequencies between the infertile and control groups were conducted using the chi-square test.
    Results
    The analysis revealed a statistically significant association between the rs2270641 polymorphism in the SLC18A gene and male infertility. Notably, the GG genotype was more prevalent in the infertile group compared to the control group (P = 0.04). Furthermore, the presence of the G allele was associated with an increased risk of infertility (odds ratio [OR] = 1.4854, 95% confidence interval [CI] = 1.0282 to 2.1459, P = 0.035). Conversely, no significant association was identified between the rs6313 polymorphism and male infertility risk.
    Conclusion
    The findings suggest that the rs2270641 polymorphism may serve as a molecular marker for heightened susceptibility to male infertility. However, additional research involving larger sample sizes and diverse ethnic populations is warranted to confirm and refine these results.
    Keywords: Male Infertility, Genetic Polymorphism, PCR, HTR2A, SLC18A
  • Noor Mohammad Noori, Saeedeh Yaghoubi, Ali Aghighi, Mohsen Taheri, Gholamreza Bahari*
    Background

    Congenital heart defects (CHD) are recognized as the most common heart abnormalities amongst newborns and children, and atrial septal defect (ASD) is recognized as one of the most frequent forms of CHD. Prior studies indicated that the methylenetetrahydrofolate reductase (MTHFR) gene contributes to the etiology of CHD. Therefore, we designed a case-control study to assess the possible role of the MTHFR gene, specifically the C677T (rs1801133) and A1298C (rs1801131) polymorphisms within the Iranian ASD population sample.

    Method

    A total of 166 subjects (81 children diagnosed with ASD and 85 control participants) were enrolled in this research. Samples genotyped for MTHFR rs1801133 and rs1801131 polymorphisms using the PCR-RFLP and ARMS-PCR approaches.

    Results

    Our results indicated that rs1801131 variant reduced the risk of ASD in codominant (OR [95%CI]: 0.41[0.21-0.83], P=0.012), dominant (OR[95%CI]: 0.48 [0.25-0.93], p=0.028) and overdominant (OR[95%CI]: 0.44 [0.23-0.81], P=0.009) models. Moreover, rs1801133 variant increased the risk of ASD in codominant (OR[95%CI]: 2.68[1.39-5.16], P = 0.003), dominant (OR [95% CI]: 2.72 [1.43–5.14], P = 0.002), overdominant (OR [95% CI]: 2.50 [1.31–4.78], P = 0.005), and allelic (OR [95% CI]: 2.16 [1.27–3.69], P = 0.004) models.

    Conclusion

    Our findings suggest that MTHFR rs1801133 and rs1801131 variants may potentially affect the onset of ASD.

    Keywords: Atrial Septal Defect, Congenital Heart Defects, Folate Metabolism, Genetic Polymorphism, Methylenetetrahydrofolate Reductase.​​​​​​
  • Naeme Mohammadi, Bahman Eslami, Bagher Seyedalipour*, Ehsan Joz Jalalian
    Background & Objective

    The relationship between vitamin D receptor (VDR). Polymorphisms, and diabetes remain uncertain. This study aimed to examine the potential correlation between type 2 diabetes mellitus (T2DM) and rs739837 single nucleotide polymorphism (SNP) in the Mazandaran province population.

    Materials & Methods

    A case-control study was conducted, involving 100 individuals diagnosed with T2DM and 100 healthy controls, all residents of Mazandaran province. The extraction of genomic DNA and rs739837 polymorphism was genotyped using the Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) method.

    Results

    The data indicated a significant association between GT genotype and a decreased risk of T2DM (OR= 0.5135, 95%CI= 0.2759 to 0.9559, P=0.0355). Moreover, individuals carrying T allele showed a reduced likelihood of progressing T2DM (OR= 0.4657, 95%CI= 0.2564 to 0.8461, P=0.0121).

    Conclusion

    The findings suggested that rs739837 polymorphism in the VDR gene may serve as a protective factor against T2DM in the studied population. Further research with larger samples is needed to confirm these results across different populations.

    Keywords: VDR Gene, Rs739837, Genetic Polymorphism, T2DM
  • Elham Hadi, Hashem Nayeri*, Ali Mohammad Ahadi, Ziba Rezvani Sichani
    Background

     Obesity is a multifactorial disorder that has considerably increased in developing countries in recent years. This disease results from an imbalance between energy intake and expenditure, influenced by various factors such as behavior, diet, environment, metabolic factors, and genetics. Different genetic aspects of obesity seek mutations in genes that are responsible for appetite control and metabolism. FNDC5 is a glycosylated membrane protein that is highly expressed in the heart, brain, and skeletal muscle tissues in mice. This protein is cleaved by an unknown protease at the cell surface. This study aimed to investigate the rs1746661 polymorphism in the FNDC5 gene among obese patients.

    Materials and Methods

     The blood samples were collected from 100 individuals visiting Shariati Hospital in Isfahan and the Social Security Clinic for DNA extraction using the phenol-chloroform method, and informed consent was obtained from them for their participation in the study. Specific primers for G/A/T alleles were designed for the amplification refractory mutation system-polymerase chain reaction (PCR) method, and PCR was performed. The results were examined on agarose gel electrophoresis and statistically analyzed using SPSS 22 software.

    Results

     Based on genetic analysis investigations, our findings revealed a significant association between the GT genotype in the rs1746661 polymorphism and the occurrence of obesity and/or other metabolic disorders. Such genotypes can be considered predisposing polymorphisms for obesity and/or other metabolic problems.

    Conclusion

     Overall, the multifactorial nature of obesity, such as lifestyle and dietary habits, should receive special attention.

    Keywords: FNDC5, Genetic Polymorphism, Rs1746661, Obesity
  • Mohammad Keyvanloo Shahrestanaki, Haniyeh Karami, Hadi Lotfi, Milad Khorasani, Zeinab Babaei, Mohammad Salari Zare, Marzieh Kafami, Ilia Abrishami

    Anxiety disorders (ADs) are a group of mental disorders characterized by feelings of tension, fear, and excessive worrying in the face of life experiences. Aberrant signaling of adenosine A2a receptor (ADORA2A) is believed to be involved in the pathogenesis of ADs. Polymorphisms in the ADORA2A gene were shown to be associated with some of the patterns presented by ADs. The results of these studies have been inconsistent, making it hard to draw definitive conclusions. Therefore, this study performed a systematic review to clarify the associations between ADORA2A gene polymorphisms and ADs susceptibility. PubMed/Medline, Web of Science, and Scopus database using appropriate keywords, then screened for separation of suitable studies based on inclusion/exclusion criteria. Collectively, rs5751876 (1976T>C or previously 1083C>T) and rs35060421 (2592C>Tins) polymorphisms of ADORA2A were associated with an increased susceptibility to ADs. Moreover, rs2298383 TT genotype may be the causal regulatory factor, and ADORA2A T/C (rs2298383/rs3761422) haplotypes have significant susceptibility to ADs development. Additional research is needed to further define the role of ADORA2A gene polymorphisms in the pathogenesis of ADs.

    Keywords: Anxiety Disorders, Adenosine, Genetic Polymorphism, Adenosine A2a Receptor
  • مقدمه

    اندومتریوز یک اختلال مزمن زنانه است و پاتوژنز این بیماری هنوز محل بحث است. ژن های مرتبط با آپوپتوز در اندومتریوز همچنان مورد بحث  می باشد.

    هدف

    این کار به منظور بررسی رابطه بین گونه های چندشکلی نواحی پروموتور Bax-248G>A و Bcl-2 -938 C>A با خطر اندومتریوز در جمعیت ایرانی انجام شد.

    مواد و روش ها

    در این مطالعه مورد-شاهدی، پلی مورفیسم های نواحی پروموتور Bax-248G>A و Bcl-2 -938 C>A در 127 مورد ایرانی و 125 فرد شاهد مراجعه کننده به بیمارستان آموزشی علی ابن ابی طالب زاهدان، ایران بین می 2022 تا فوریه 2023 مورد بررسی قرار گرفت. تجزیه ژنوتیپی برای همه افراد با استفاده از روش پلی مورفیسم طول قطعه محدودکننده واکنش زنجیره ای پلیمراز، انجام شد.

    نتایج

    فراوانی ناقلین آلل جهش یافته A و همچنین فراوانی آلل A پلی مورفیسم Bax-248G>A حدود دو برابر افزایش معنی داری در خطر اندومتریوز نشان داد (به ترتیب 04/0 = p؛ 01/0 = p). فراوانی ژنوتیپ جهش یافته AA و حامل آلل A پلی مورفیسم Bcl-2-938 C>A در اندومتریوز تقریبا 4 و 5/2 برابر بیشتر از زنان شاهد بود که بسیار معنی دار بود (001/0 < p). علاوه بر این، فراوانی آلل A پلی مورفیسم Bcl-2-938 C>A با دو برابر خطر ابتلا به اندومتریوز مرتبط بود (001/0 < p). علاوه بر این، اثرات ترکیبی این دو SNP نشان داد که بیماران مبتلا به آلل های Bax-248G>A GG و Bcl-2-938C>A AA با خطر ابتلا به اندومتریوز در حدود پنج برابر بیشتر همراه بودند (001/0 <p). شایان ذکر است که توزیع آلل جهش یافته بین بیماران حداقل/خفیف (مرحله I و II) و متوسط/شدید (مرحله III و IV) بیماری اندومتریوز تفاوت معنی داری داشت.

    نتیجه گیری

    نتایج مطالعه حاضر شواهدی را ارائه می دهد که نشان می دهد پلی مورفیسم های تک نوکلئوتیدی Bcl-2-938C>A و Bax-248G>A ممکن است با خطر اندومتریوز مرتبط باشند.

    کلید واژگان: اندومتریوز، آپوپتوز، پلی مورفیسم ژنتیکی، Bax، Bcl-2
    Arefe Edalatian Kharrazi, Forough Forghani*, Danial Jahantigh, Saeedeh Ghazaey Zidanloo, Mahnaz Rezaei, Mohsen Taheri
    Background

    Endometriosis is a chronic, gynecological disorder, and the disease's pathogenesis is still debatable. Genes related to apoptosis have been revealed to be deregulated in endometriosis.

    Objective

    This study investigates the relationship between polymorphic variants of Bax -248G>A and Bcl-2 -938C>A promoter regions with endometriosis risk in an Iranian population.

    Materials and Methods

    In this case-control study, the polymorphisms of Bax -248G>A and Bcl-2 -938C>A promoter regions were analyzed in 127 Iranian cases and 125 controls who were referred to Ali-ibn-Abi Taleb Educational hospital, Zahedan, Iran between May 2022 and February 2023. The genotypic analysis was performed for all the subjects using the polymerase chain reaction-restriction fragment length polymorphism method.

    Results

    The frequencies of mutant allele A carriers and the A allele of Bax -248G>A polymorphism showed about 2-fold significant increase of endometriosis risk (p = 0.04; p = 0.01, respectively). The frequencies of the mutant genotype AA and A allele carriers of Bcl-2 -938C>A polymorphism were approximately 4 and 2.5-fold higher in endometriosis compared to the control women, which were highly significant (p > 0.001). Moreover, the allele A frequency of Bcl-2 -938C>A was associated with a 2-fold higher risk of endometriosis (p > 0.001). Furthermore, the combination effects of these 2 single nucleotide polymorphisms showed that women with Bax -248G>A GG and Bcl-2 -938C>A AA variant alleles were associated with about 5 times higher risk of endometriosis (p > 0.001). Notably, a significant difference was observed in mutant allele distribution between minimal/mild (stage I and II) and moderate/severe (stage III and IV) women with endometriosis disease.

    Conclusion

    The results of our study provide evidence that Bcl-2 -938C>A and Bax -248G>A single nucleotide polymorphisms might be associated with the risk of endometriosis.

    Keywords: Endometriosis, Apoptosis, Genetic Polymorphism, Bax, Bcl-2
  • علی کریمیان، محمد کریمیان*
    زمینه و هدف

    از مکانیسم های پیشنهادی برای کاهش شنوایی مرتبط با سن (ARHL)، افزایش قابل توجه استرس اکسیداتیو در حلزون گوش است. آنزیم های گلوتاتیون اس ترانسفراز (GSTs) از جمله آنزیم های مهم آنتی اکسیدانی فعال در حلزون گوش هستند. در مطالعه حاضر، ارتباط پلی مورفیسم rs4891 موجود در ژن GSTP1 با ریسک ابتلا به ARHL ارزیابی گردید.

    روش ها

    در این مطالعه مورد-شاهدی، 90 فرد مبتلا به ARHL و 100 فرد سالم بررسی شد. DNA ژنومی از خون افراد استخراج گردید و ژنوتیپ های پلی مورفیسم GSTP1-rs4891 با استفاده از روش تکنیک PCR-RFLP تعیین شد. ارتباط بین ژنوتیپ ها و ریسک ابتلا به ARHL با استفاده از تحلیل رگرسیون لجستیک جهت محاسبه نسبت شانس و فاصله اطمینان 95 درصد مورد بررسی قرار گرفت.

    یافته ها

    ژنوتایپ های TC و CC با ریسک ابتلا به ARHL ارتباط نداشتند اما آنالیز مدل غالب نشان داد که حاملین آلل C در معرض ریسک ابتلا به ARHL بودند (0/032=P، 3.23-0.94=95 درصد CI، 1/882=OR). همچنین آنالیز آللی نشان داد که آلل C با ARHL ارتباط دارد (019/0=P، 2.65-1.09=95 درصد CI، 700/1=OR). ژنوتایپ های موتانت CT (0181/0=P، 1.2127-7.8927=95 درصد CI، 3/0938=OR) و CC (0/0029=P، 2.3695-64.6308=95 درصد CI، 12/3750=OR) با افزایش سن در ابتلا به ARHL مرتبط بود.

    نتیجه گیری

    بر اساس یافته های حاضر، پلی مورفیسم GSTP1-rs4891 می تواند برای ARHL، به ویژه در سنین بالاتر، یک فاکتور خطر مولکولی محسوب شود. با این حال، انجام مطالعات آتی در حجم نمونه بزرگتر ضروری به نظر می رسد.

    کلید واژگان: کاهش شنوایی مرتبط با سن، گلوتاتیون اس ترانسفراز، پلی مورفیسم ژنتیکی، Rs4891
    Ali Karimian, Mohammad Karimian*
    Background and Aim

    Age-related hearing loss (ARHL) is thought to be linked to an increase in oxidative stress in the cochlea. Glutathione S-transferase enzymes (GSTs) play a crucial role as antioxidant enzymes in the cochlea. The aim of this study was to evaluate the association between the rs4891 polymorphism in the GSTP1 gene and the risk of ARHL.

    Methods

    This case-control study involved the examination of 90 individuals with ARHL and 100 healthy individuals. Genomic DNA was extracted from blood samples, and the PCR-RFLP technique was used to determine the genotypes of the GSTP1-rs4891 polymorphism. Logistic regression analysis was conducted to investigate the relationship between genotypes and the risk of ARHL. The odds ratio and 95% confidence interval were calculated.

    Results

    The results showed that the TC and CC genotypes were not found to be associated with the risk of ARHL. However, analysis using the dominant model revealed that C allele carriers were at a higher risk of ARHL (P=0.032, 95% CI=0.94-3.23, OR=1.882). Allelic analysis also indicated an association between the C allele and ARHL (P=0.019, 95% CI=1.09-2.65, OR=1.700). Moreover, the CT (P=0.0181, 95% CI=7.8927-1.2127, OR=3.0938) and CC (P=0.0029, 95% CI=64.6308-2.3695, OR=12.3750) mutant genotypes were associated with an increased risk of ARHL with increasing age.

    Conclusion

    The findings suggest that the GSTP1-rs4891 polymorphism may serve as a molecular risk factor for ARHL, particularly in older individuals. However, further studies with larger sample sizes are warranted to validate these findings.

    Keywords: Age-Related Hearing Loss, Glutathione S-Transferase, Genetic Polymorphism, Rs4891
  • جواد جهانگیری، بابک شیرازی یگانه*، اردشیر بهمنی
    مقدمه

    از سال 1950، وارفارین به عنوان ضد انعقاد برای درمان و پیشگیری از شرایط ترومبوآمبولی استفاده می شود. عوامل مختلفی همچون سن، وزن، رژیم غذایی و عوامل ژنتیکی مثل ژن  CYP2C9وVKORC1 در تعیین دوز وارفارین موثر هستند. این مطالعه جهت ارزیابی پلی مورفیسم های رایج در بیماران تحت درمان با وارفارین انجام شد.

    روش ها

    مطالعه ی مقطعی حاضر در سال 1399 در آزمایشگاه بیمارستان شهید دستغیب انجام گرفت. در مجموع 99 بیمار برای این مطالعه انتخاب شدند که به دلایل مختلف، از جمله مشکلات قلبی، وارفارین دریافت می کردند. پلی مورفیسم های ژنCYP2C9  و VKORC1 به روش Multiplex PCR مورد بررسی قرار گرفتند.

    یافته ها

    فراوانی افراد با آلل 1*1*، 3*1*، 3*2* و 3*3* برای ژن CYP2C9 به ترتیب 1، 9/1، 19/2 و 70/2 درصد و برای ژن VKORC1 -1639G>A آلل GA با 52/5 درصد بیش ترین فراوانی را داشت و پس از آن GG و  AAبه ترتیب با 34/3 و 13/1 درصد بیش ترین فراوانی را داشتند.

    نتیجه گیری

    حضور پلی مورفیسم ژن CYP2C9 و VKORC1 اثر مهمی بر دوز وارفارین مورد نیاز برای حفظ  INRدر محدوده ی 3-2 دارد. در این مطالعه ی آلل CYPC2CP*3*3 و VKORC1 -1639G>A شایع ترین پلی مورفیسم های موجود بود. در مطالعه ی حاضر، ما نشان دادیم که ترکیب سن، وزن و ژنوتیپ CYP2C9 و VKORC1، تخمین بهترین دوز نگهداری وارفارین را ممکن می سازند. می توان با معادله ی رگرسیون نیاز دوز هفتگی وارفارین را محاسبه و به تعیین دوز آغازین این دارو به افرادی با شرایط مشابه کمک کرد.

    کلید واژگان: وارفارین، ژنتیک پلی مورفیسم، پروتئین CYP2C9انسانی، پروتئین VKORC1انسانی
    Javad Jahangiri, Babak Shirazi Yeganeh *, Ardeshir Bahmani
    Background

    Since 1950, warfarin has been widely used as an anticoagulant medication for the prevention and treatment of thromboembolism. Various factors such as age, weight, diet, and genetic factors such as CYP2C9 and VKORC1 genes are involved in determining the dose of warfarin. This study was conducted to evaluate common polymorphisms in patients treated with warfarin.

    Methods

    The present cross-sectional study was conducted in the laboratory of Shahid Dastghib Hospital in Shiraz, Iran, in 2019. A total of 99 patients were selected for this study. Patients were receiving warfarin for various reasons, including heart problems. CYP2C9 and VKORC1 gene polymorphisms were investigated by a multiplex PCR method.

    Findings

    The haplotype frequencies of CYP2C9 alleles with *1*1, *1*3, *2*3, and *3*3 combinations were 1, 9.1, 19.2, and 70.2 percent, respectively. Among VKORC1 -1639G> A gene, allele GA, by 52.5%, was most frequent, followed by GG and AA with 34.3%, and 13.1% respectively.

    Conclusion

    The results showed a significant effect of CYP2C9 and VKORC1 gene polymorphisms on the required starting dose of warfarin to maintain INR in the range of 2-3. The CYPC2CP * 3*3* and VKORC1 -1639 G>A alleles were the most common polymorphisms in the studied population. The combination of age, weight, and haplotype genotypes of CYP2C9 and VKORC1 was the best predictive value. We can calculate the weekly dose of warfarin with the regression equation and help determine the starting dose of this drug for people with similar conditions.

    Keywords: Warfarin, Genetic polymorphism, Human CYP2C9 protein, Human VKORC1 protein
  • Masoud Parsania, Seyed Mahmood Seyed Khorrami, Mandana Hasanzad, _ Negar Parsania, Sina Nagozir, Narges Mokhtari, Hossein Mehrabi Habibabadi, Azam Ghaziasadi, Saber Soltani, Ali Jafarpour, Reza Pakzad, Seyed Mohammad Jazayeri *
    Background and Objectives

    Host genetic changes like single nucleotide polymorphisms (SNPs) are one of the main fac- tors influencing susceptibility to viral infectious diseases. This study aimed to investigate the association between the host SNP of Toll-Like Receptor3 (TLR3) and Toll-Like Receptor7 (TLR7) genes involved in the immune system and susceptibil- ity to COVID-19 in a sample of the Iranian population.

    Materials and Methods

    This retrospective case-control study evaluated 244 hospitalized COVID-19 patients as the case group and 156 suspected COVID-19 patients with mild signs as the control group. The genomic DNA of patients was gen- otyped for TLR7 (rs179008 and rs179009) and TLR3 (rs3775291 and rs3775296) SNPs using the polymerase chain reac- tion-restriction fragment length polymorphism (PCR-RFLP) method.

    Results

    A significant association between rs179008 SNP in the TLR7 gene and the susceptibility of COVID-19 was found between case and control groups. The AT genotype (Heterozygous) of TLR7 rs179008 A>T polymorphism showed a sig- nificant association with a 2.261-fold increased odds of COVID-19 (P=0.003; adjusted OR: 2.261; 99% CI: 1.117-4.575). In addition, a significant association between TC genotype of TLR7 rs179009 T>C polymorphism and increased odds of COVID-19 (P< 0.0001; adjusted OR: 6.818; 99% CI: 3.149-14.134) were determined. The polymorphism frequency of TLR3 rs3775291 and rs3775296 genotypes were not significantly different between the case and control groups (P> 0.004167).

    Conclusion

    SNPs in TLR7 rs179008 and rs179009 genotypes are considered host genetic factors that could be influenced individual susceptibility to COVID-19. The SNPs in TLR3 (rs3775296 and rs3775291) showed no significant association with COVID-19 in Iranian population.

    Keywords: TLR3, TLR7, Genetic polymorphism, COVID-19, Susceptibility
  • Nur Efe Iris *, Ozlem Akman, Demet Akin, Palmet Gun Atak, Ahmed Cihad Genc, Funda Simsek
    Background

     Early immune responses to COVID-19 can help eliminate the virus; therefore, strategies to improve the immune system have become important in disease prevention. Vitamin D plays a crucial role in the immune response to SARS-CoV-2 by increasing the expression of the vitamin D receptor.

    Objectives

     This study investigated the impact of vitamin D deficiency, Fok 1, and Taq 1 Vitamin D Receptor (VDR) gene polymorphisms and comorbidities on the susceptibility to COVID-19.

    Methods

     Fok1 and Taq1 polymorphisms were analyzed using the RT-PCR method, and vitamin D levels were measured using the chemiluminescence method. A total of 200 patients, 100 with COVID-19 and 100 without, provided blood samples for analysis.

    Results

     The COVID-19 positive group had a significantly lower mean vitamin D level of 16.2 ± 11.3 ng/mL compared to the COVID-19 negative control group, 26.7 ± 15.9 ng/mL (P < 0.001). Individuals with a vitamin D level below 18.4 ng/mL had a 2.448 times higher risk of COVID-19 positivity (P < 0.001). There was no significant difference in the Fok1 and Taq1 gene polymorphisms between the two groups. (P = 0.548 and P = 0.098). The COVID-19 positive group had a significantly higher number of comorbid diseases with 40 (40%) compared to the negative group with 10 (10%) participants (P < 0.001).

    Conclusions

     Levels of vitamin D above the cut-off value of 18.4 ng/mL were found to protect against COVID-19, while the presence of comorbid diseases was identified as a risk factor. However, no association was observed between the Fok1 and Taq1 polymorphisms and susceptibility to COVID-19.

    Keywords: Vitamin D Deficiency, COVID-19 Receptors, Calcitriol, Genetic Polymorphism, Comorbidity
  • Ailar Jamali, Mojtaba Zare Ebrahimabad, Sareh Zhand, Ayyoob Khosravi*
    Background

    Genetic polymorphisms are predictors of the immune response and susceptibility to certain infectious diseases, including pulmonary tuberculosis (TB). We evaluated the association of monocyte chemoattractant protein-1 (MCP1) (-2581 A/G) and interferon-gamma (IFNγ) (+874 T/A) polymorphisms with susceptibility to pulmonary TB in an Iranian population.

    Methods

    A total of 124 patients with pulmonary tuberculosis and 244 healthy subjects (121 related normal controls and 123 unrelated subjects) were included. The MCP1 polymorphic region (-2518 A/G) was genotyped by PCR-RFLP, while ARMS-PCR was used to amplify and detect IFNγ (+874 T/A). SNPStats and SPSS v. 20 were used for the statistical analysis of the data.

    Results

    The comparison of MCP1 (-2518 A/G) alleles and genotypes in TB patients and healthy subjects showed no significant association in all the constructed heredity models. No association was observed between TB patients and normal subjects in all the constructed inheritance models for IFNγ (+874 T/A) alleles and genotypes.

    Conclusion

    Due to the lack of association between MCP1 (-2518 A/G) and IFNγ (874 T/A) polymorphisms and susceptibility to PT in our study and the conflicting results of some previous studies, further clinical and molecular research is needed to clarify the role of the studied polymorphisms in the pathogenesis of tuberculosis.

    Keywords: Monocyte chemoattractant protein-1, Interferon-gamma, Genetic Polymorphism, Pulmonary tuberculosis
  • Nathali Cavascan, Jorge Assunção, Alexandre Godoy-Santos, Arnaldo Ferreira Neto, Maria Cristina Santos *
    Objectives
    Rotator Cuff Tear (RCT) is a multifactorial disease, but an important one is the increased collagen degradation that would lead to a higher chance of tear. MMP-8 is a protein that degrades type I collagen, and it is known that MMP-8 has a polymorphism in which a T allele in the gene promoter region increases its transcription activity. This study aims to investigate the association between MMP -8 polymorphism g.-799 C>T (rs11225394) and RCT.
    Methods
    To do that, we collected DNA samples from buccal epithelial cells of 128 patients (separated into RCT group and control group in a proportion 1:1) and genotyped the DNA using PCR. The statistical analyses were done using the ARLEQUIN Version 2.0, and the data normality was tested with the Shapiro-Wilk test.
    Results
    The results showed a significantly higher frequency of T/T genotype in the test group (29% in the control group and 39% in the test group, p=0.0417), and that would represent a risk factor for increased collagen degradation.
    Conclusion
    The MMP-8 g.-799 C>T (rs11225394) SNP was associated with RCT. With the description of a new risk factor, future research can be done to analyze how to prevent RCT or develop new treatment strategies since the disease's failure index is currently high. Level of evidence: II
    Keywords: Genetic polymorphism, Metalloproteases, Risk Factor, Rotator cuff tear
  • Pallavi Kesavan, Aiswarya Padmaja Satheesh, Akram Husain Rehman Syed Rasheed, Umamaheshwari Veerappan, Subramaniyan Kannaian, Ramakrishnan Veerabathiran *
    Background
    Migraine is a multifactorial neurological disorder characterized by frequent moderate to severe intensity headaches. The genetic variations in synaptic and post-receptor signalling proteins have direct effect on the process of serotonergic neurotransmission.
    Methods
    We aimed to investigate the genetic association of serotonin transporter (SERT) 5-hydroxytryptamine transporter-linked promoter region (5-HTTLPR) polymorphism and migraine risk in South-Indian population. A total of 304 subjects with migraine including with aura (MA) and without aura (MO) and 308 controls were included in the present study. The single nucleotide polymorphism (SNP) was detected using polymerase chain reaction (PCR) and confirmed by deoxyribonucleic acid (DNA) sequencing.
    Results
    The genotyping analysis revealed insignificant relationship with migraine subjects when compared with controls (P > 0.05). The minor ‘S’ allele showed no association with odds ratio (OR) = 1.23 [95% confidence interval (CI): 0.90-1.66], heterozygote with OR = 1.18 (95% CI: 0.82-1.69), and homozygote with OR = 1.51 (95% CI: 0.52-4.35).
    Conclusion
    Further clinical studies are required to validate the results of SERT 5-HTTLPR promoter polymorphism in diverse ethnic descents especially in Asian populations.
    Keywords: Migraine Disorders, SERT Gene, Case-Control Studies, Genetic Polymorphism, India
  • جابر یقینی، امیر فرمحمدی، محمد کریمیان، مینا جمشیدی *
    مقدمه

    تنوع ژنتیکی در سایتوکین هایی مانند اینترلوکین α1 و اینترلوکین 1β از طریق تغییر در پاسخ ایمنی در بیماری های التهابی مثل پریودنتیت مزمن نقش دارد و ریسک ابتلا به این بیماری را تغییر می دهد. هدف این مطالعه، بررسی ارتباط پلی مورفیسم های ژنتیکی 4845G>T اینترلوکین 1α و 3954C>T اینترلوکین 1β با ریسک ابتلا به پریودنتیت مزمن می باشد.

    مواد و روش ها

    در این مطالعه ی مورد- شاهدی، 266 شرکت کننده از مراجعین به دانشکده ی دندان پزشکی اصفهان در سال 1398 شامل 133 فرد سالم و 133 فرد مبتلا به پریودنتیت مزمن وارد مطالعه شدند، ژنوتایپ نمونه های خون افراد شرکت کننده در محل پلی مورفیسم فوق با روش PCR-RFLP تعیین شد. میزان ارتباط پلی مورفیسم های مورد مطالعه با پریودنتیت مزمن توسط آزمون رگرسیون لوجستیک محاسبه شد. سطح
    0/05 > p value از لحاظ آماری معنی دار بود.

    یافته ها

     آنالیز داده ها وجود ارتباط معنی دار بین ژنوتایپ های CT، TT و آلل T پلی مورفیسم 3954C>T اینترلوکین 1β و افزایش ریسک ابتلا به پریودنتیت مزمن و عدم وجود ارتباط معنی دار بین پلی مورفیسم 4845G>T از اینترلوکین 1α و خطر ابتلا به پریودنتیت مزمن را نشان داد.

    نتیجه گیری

    بر اساس داده های فوق پلی مورفیسم 3954C>T فاکتور خطر برای پریودنتیت مزمن به شمار می رود و به عنوان یک بیومارکر بالقوه برای غربالگری افراد مستعد به این بیماری می باشد.

    کلید واژگان: پریودنتیت مزمن، اینترلوکین 1، پلی مورفیسم ژنتیکی
    Jaber Yaghini, Amir Farmohammadi, Mohammad Karimian, Mina Jamshidi *
    Introduction

    Genetic diversity in cytokines such as interleukin α1 and interleukin 1β is involved in altering the immune response in inflammatory diseases such as chronic periodontitis and changes the risk of this disease. The aim of this study was to investigate the association of genetic polymorphisms 4845G> T interleukin 1α and 3954C> T interleukin 1β with the risk of chronic periodontitis.

    Materials and Methods

    Participants including 133 healthy individuals and 133 individuals with chronic periodontitis referred to Isfahan Dental School, were included in the study. The genotype of blood samples at the site of the above polymorphism was determined by PCR-RFLP method. The relationship between the studied polymorphisms and chronic periodontitis was calculated by logistic regression test. Statistical analyzes were performed by SPSS software. The p value level < 0.05 was statistically significant.

    Results

    Data analysis showed a significant relationship between CT and TT genotypes and T allele of polymorphism 3954C> T interleukin 1β and increased risk of chronic periodontitis and no significant relationship between polymorphism 4845G> T of interleukin 1α and the risk of Showed chronic periodontitis.

    Conclusion

     Based on the above data, T> 3954C polymorphism is a risk factor for chronic periodontitis and serves as a potential biomarker for screening people prone to
    this disease.

    Keywords: Chronic periodontitis, Interleukin 1, Genetic polymorphism
  • Mahdieh Malvandi, Marie Saghaeian Jazi, Elham Fakhari
    Background

    Chronic periodontitis (CP) is characterized by an immune response, leading to the destruction of periodontal supporting tissue. The effect of inflammatory and genetic factors on periodontitis has been evaluated previously. The interleukin (IL‑17) as an inflammation regulator seems to play a critical role in periodontitis pathogenesis. Here, in the current study, we aimed to investigate the association of ‑197 G > A (rs2275913) IL‑17 gene promoter polymorphism with generalized severe CP in an Iranian population.

    Materials and Methods

    In this case–control study, a total of 54 patients with periodontitis and 118 normals were enrolled. The polymerase chain reaction‑restriction fragment length polymorphism technique was applied to detect IL‑17 promoter rs2275913 genotypes in association with the susceptibility to severe CP. Chi‑square test or Fisher’s exact test was employed to compare genotype frequencies between groups. P < 0.05 were considered statistically significant.

    Results

    The distribution of genotypes and alleles was in Hardy–Weinberg equilibrium. Although no significant association was observed between the risk of periodontitis and genotype frequencies under any of the inheritance models, the GG genotype was higher in healthy controls, while the AG genotype was more frequently observed in patients under the codominant model ([odd ratio [OR] = 2.14, 95% confidence interval (CI) (1.01–4.53), P = 0.13]). The frequency of AG‑AA genotype was higher in patients under dominant inheritance model ([OR = 1.92, 95% CI (0.94–3.93), P = 0.068]), while GG‑AA and AG genotypes were higher in healthy controls under over dominant model (OR = 0.1.95, 95% CI [0.98‑3.86], P = 0.055).

    Conclusion

    The results of this study showed that the presence of allele A and AG genotypes could be considered possible factors in increasing the risk of developing CP, although the differences of allele and genotype frequencies were remarkable but not statistically significant between the two groups.

    Keywords: Genetic polymorphism, interleukin 17, periodontitis
  • Negar Firouzabadi, Dena Firouzabadi *, Nima Ghazanfari, Ali Alavi-Shoshtari, Elham Haem

    Genetics has been found to have a prominent role in autism and therefore pharmacogenetics may guide us to a better management of this disorder. Given the importance of Renin-Angiotensin System (RAS) in the function of the brain and its possible association with autism, genetic variations of RAS may influence response to autism treatment. In this study, 83 autistic children were enrolled (3 to 12 years of age). Degree of autism was confirmed by the DSM-V criteria and response to treatment was measured according to Aberrant Behavior Checklist (ABC) scale at baseline, at 4 and 12 weeks of risperidone therapy. Polymorphisms (ACE I/D, rs4343 and rs4291) were determined by PCR-RFLP. Our results indicate the positive role of long term therapy in autism (12 weeks vs 4 weeks). The highest response rate in ACE ID gene was in the DD genetic variant at both 4 and 12 weeks of treatment. For the ACE A2350G gene, all genetic variants did not respond well to treatment at 4 weeks, however at 12 weeks, positive response was dominant in the AG genetic variant. Highest response rate in the ACE A240T gene belonged to the AT variant at both 4 and 12 weeks of treatment. However, our results indicate no significant association between ACE gene polymorphisms and response to risperidone therapy in autistic children based on ABC scaling. In conclusion, this study does not support the hypothesis of involvement of RAS genetics in response to risperidone in autistic children.

    Keywords: Renin-angiotensin system, Angiotensin-converting enzyme, Genetic Polymorphism, Single Nucleotide Polymorphism
  • Ren-Ai Xu *, Ping Fang, Zhize Ye, Mingming Han, Jian-Ping Cai, Guoxin Hu
    Objective (s)

    This study aims to evaluate the catalytic activities of 31 CYP2C19 alleles and their effects on the metabolism of tapentadol in vitro. 

    Materials and Methods

    Insect microsomes expressing the CYP2C19 alleles were incubated with 50–1250 μM tapentadol for 40 min at 37 °C and terminated by cooling to -80 °C, immediately. Tapentadol and N-desmethyl tapentadol were analyzed by a UPLC-MS/MS system. The kinetic parameters Km, Vmax, and intrinsic clearance (Vmax/Km) of N-desmethyl tapentadol were determined. 

    Results

    As a result, the intrinsic clearance (Vmax/Km) values of most variants were significantly altered, while CYP2C19.3 and 35FS had no detectable enzyme activity. Only one variant, N277K, showed no significant difference from CYP2C19.1B. Two variants CYP2C19.29 and L16F displayed markedly increased intrinsic clearance values of 302.22% and 199.97%, respectively; whereas 24 variants exhibited significantly decreased relative clearance ranging from 0.32% to 79.15% of CYP2C19.1B. Especially, CYP2C19.2G, 2H, R124Q, and R261W exhibited a drastic decrease in clearance (>80%) compared with wild-type CYP2C19.1B. 

    Conclusion

    As the first study of all aforementioned alleles for tapentadol metabolism, the comprehensive data in vitro may provide novel insights into the allele-specific and substrate-specific activity of CYP2C19.

    Keywords: Cytochrome P450, CYP2C19 variants, Drug metabolism, Genetic polymorphism, Tapentadol
  • Mohammad Sadegh Khorrami, Fatemeh Sadabadi, Alireza Pasdar, Hamide Safarian-Bana, Forouzan Amerizadeh, Habibollah Esmaeily, Mohsen Moohebati, Alireza Heidari-Bakavoli, Gordon Ferns, Majid Ghayour-Mobarhan*, Amir Avan
    Background

    Cardiovascular disease is one of the most common causes of morbidity and mortality worldwide. The Proline and Serine Rich Coiled-Coil 1 gene in 1p13.3 locus has been reported to be associated with low density lipoprotein cholesterol (LDL-C) and coronary artery disease (CAD). The objective of this study was to investigate the association between the rs599839 polymorphism of the Proline and Serine Rich Coiled-Coil 1 (PSRC1) gene with CVD outcomes in a population sample recruited as part of the Mashhad-Stroke and Heart-Atherosclerotic-Disorders (MASHAD) cohort.

    Methods

    Five hundred and nine individuals who had an average follow-up period of 10 years were enrolled as part of the MASHAD cohort. DNA was extracted and genotyped using the TaqMan-real-time-PCR based method.

    Results

    The study found individuals with GA/GG genotypes were at a higher risk of CVDs (OR= 4.7; 95% CI, 2.5-8.7; p< 0.001) in comparison to those with AA genotype; however, the result was not significant for GG genotype data.

    Conclusions

    The results suggest that the GA/GG genotypes of the PSRC1gene locus were at increased risk of CVD in a representative population-based cohort, demonstrating further functional analysis to discover the value of emerging marker as a risk stratification biomarker to recognize high risk cases.

    Keywords: Cardiovascular diseases, cohort studies, Genetic Polymorphism, PSRC1 gene
  • یلدا امیری هزاوه، زهره شریفی*، فهیمه رنجبر کرمانی، مجید شهابی، مریم خیراندیش
    سابقه و هدف

    ویروس لنفوتروپیک سلول T انسانی نوع یک(HTLV-1) به ارتباط سلول به سلول برای ایجاد آلودگی نیازمند است و افزایش تعداد سلول آلوده به ویروس، احتمال انتقال ویروس و پیشرفت به سمت بیماری را افزایش می دهد. پاسخ های سیستم ایمنی و ژنتیک میزبان می تواند در استعداد آلودگی افراد به ویروس اثرگذار باشد، لذا در این مطالعه برای نخستین بار پلی مورفیسم ناحیه پروموتور ژن PD-1 که در تنظیم منفی پاسخ های ایمنی موثراست، در افراد آلوده به ویروس HTLV-1 فاقد علایم و افراد سالم درسال 1399 در جمعیت ایرانی بررسی گردید.

    مواد و روش ها

    در این مطالعه که به صورت مورد شاهدی انجام شد، DNA ژنومی 81 اهداکننده خون آلوده به ویروس HTLV-1 فاقد علایم و162 اهداکننده خون سالم در استان خراسان رضوی استخراج و ژنوتیپ پلی مورفیسم تک نوکلیوتیدی rs36084323 با روش RFLP-PCR تعیین گردید. جهت تایید نتایج تعیین ژنوتیپ، محصولات PCR  توالی یابی شدند. نتایج با استفاده از نرم افزار آماری 22 SPSS و براساس آزمون مربع کای تجزیه و تحلیل گردید.

    یافته ها

    فراوانی آلل های G وA پلی مورفیسم rs36084323 به ترتیب 75% و25% در گروه شاهد و 6/79% و 4/20% در گروه مورد بود و هیچ گونه اختلاف معناداری بین گروه مورد و شاهد با مرجع در نظر گرفتن آلل وحشی G مشاهده نشد.

    نتیجه گیری

    نتایج این مطالعه نشان داد که ارتباطی بین پلی مورفیسم تک نوکلیوتیدی rs36084323 G/A با استعداد آلودگی به ویروس HTLV-1 در جمعیت ایرانی وجود ندارد.

    کلید واژگان: HTLV-1، چند شکلی ژنی، PCR
    Y. Amiri Hezave, Z. Sharifi*, F. Ranjbar Kermani, M. Shahabi, M. Kheirandish
    Background and Objectives

    Human T-cell lymphotropic virus type 1 (HTLV-1) requires cell-to-cell communication to cause infection. The increase in the number of cells infected with virus in turn increases the likelihood of virus transmission and progression of disease. Host immune system responses and genetics factors can affect the susceptibility to virus. Thus, in this study, for the first time the polymorphism in PD-1 gene promoter, which is involved in the negative regulation of immune responses, was evaluated in the HTLV-1 asymptomatic carriers and the healthy controls in the Iranian population in 2020.

    Materials and Methods

    In this case-control study, genomic DNAs of 81 HTLV-1 asymptomatic carrier  blood donors and 162 healthy blood donors in Khorasan Razavi province were extracted and the rs36084323 polymorphisms  were genotyped with PCR- RFLP method. To confirm the genotyping results, PCR products were sequenced. The results were analyzed using SPSS-22 statistical software based on chi-square test.

    Results

    The frequencies of G and A alleles of rs36084323 polymorphism were 75% and 25% in the control group and 79.6% and 20.4% in the case group, respectively. Considering the G allele as a reference there was no significant difference between the case and control groups (p = 0.256).

    Conclusions 

    The results of this study showed that there is no association between G/A in single nucleotide polymorphism of rs36084323 with susceptibility to HTLV-1 virus infection in the Iranian population.

    Keywords: HTLV-1, Genetic Polymorphism, PCR
نکته
  • نتایج بر اساس تاریخ انتشار مرتب شده‌اند.
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